| Fragile X syndrome in a normal IQ male with learning and emotional problems. | |
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MedLine Citation:
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PMID: 7995799 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The present case study features an adult male who was diagnosed with fragile X syndrome after the identification of this syndrome in his more affected brother. The patient presented with a Full Scale IQ within the broad range of normal and has been diagnosed with a schizotypal personality disorder. He shows significant deficits in the social and emotional aspects of daily life, but has striking cognitive strengths relating to reading and vocabulary as compared to most males affected with fragile X syndrome. DNA testing of blood leukocytes revealed that he has a fully expanded FMR1 CGG repeat mutation associated with almost complete lack of methylation. Protein studies demonstrate a limited production of FMRP, the protein produced by the FMR1 gene. It is believed that the near absence of methylation of the fully expanded mutation and the resultant expression of the FMR1 protein is responsible for the strong cognitive abilities of this fragile X patient. |
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Authors:
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S A Merenstein; V Shyu; W E Sobesky; L Staley; E Berry-Kravis; D L Nelson; K A Lugenbeel; A K Taylor; B F Pennington; R J Hagerman |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Journal of the American Academy of Child and Adolescent Psychiatry Volume: 33 ISSN: 0890-8567 ISO Abbreviation: J Am Acad Child Adolesc Psychiatry Publication Date: 1994 Nov-Dec |
Date Detail:
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Created Date: 1995-01-17 Completed Date: 1995-01-17 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 8704565 Medline TA: J Am Acad Child Adolesc Psychiatry Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1316-21 Citation Subset: IM |
Affiliation:
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Child Development Unit, Children's Hospital of Denver, CO 80218. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Fragile X Syndrome / complications, genetics*, psychology Humans Intelligence / genetics* Learning Disorders / genetics*, psychology Male Mental Disorders / genetics* Methylation Mutation / genetics Nerve Tissue Proteins / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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M01 RR00069/RR/NCRR NIH HHS; MCJ000252//PHS HHS; MH45916/MH/NIMH NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Nerve Tissue Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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